Hurler-Scheies sykdom


Engelsk navn: Hurler-Scheie syndrome
Engelske synonym: MPS1H/S,MPSIH/S,Mucopolysaccharidosis type 1H/S,Mucopolysaccharidosis type IH/S


Definisjon

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Fra Orphanet

ORPHA: 93476
Klassifiseringsnivå: Subtype of disorder
ICD-10: E76.0

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